Linked Data
dbSNP Id:
rs370312523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72376010G>C , CM000677.2:g.72376010G>C | GRCh38 |
| NC_000015.9:g.72668351G>C , CM000677.1:g.72668351G>C | GRCh37 |
| NC_000015.8:g.70455405G>C | NCBI36 |
| NG_009017.1:g.5170C>G | |
| NG_009017.2:g.5170C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268097.10:c.-38C>G MANE Select | ENSP00000268097.6:n.-38C>G | |
| ENST00000268097.9:c.-38C>G | ENSP00000268097.5:n.-38C>G | |
| ENST00000569509.5:n.147-179C>G | ||
| NM_000520.4:c.-38C>G | NP_000511.2:n.-38C>G | |
| NM_000520.5:c.-38C>G | NP_000511.2:n.-38C>G | |
| NM_001318825.1:c.-38C>G | NP_001305754.1:n.-38C>G | |
| NR_134869.1:n.464C>G | ||
| NM_000520.6:c.-38C>G MANE Select | NP_000511.2:n.-38C>G | |
| NM_001318825.2:c.-38C>G | NP_001305754.1:n.-38C>G | |
| NR_134869.2:n.5C>G | ||
| NR_134869.3:n.5C>G |